238030005: Galactocerebroside beta-galactosidase deficiency - early onset (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset

\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...

\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset

\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

356773010 Galactocerebroside beta-galactosidase deficiency - early onset en Synonym Active Entire term case insensitive SNOMED CT core module
356774016 Infantile Krabbe disease en Synonym Active Only initial character case insensitive SNOMED CT core module
356775015 Globoid cell leucodystrophy, early onset en Synonym Inactive Only initial character case insensitive SNOMED CT core module
356776019 Globoid cell leukodystrophy, early onset en Synonym Inactive Only initial character case insensitive SNOMED CT core module
626852011 Galactocerebroside beta-galactosidase deficiency - early onset (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Galactocerebroside beta-galactosidase deficiency - early onset	Is a	Sphingolipidosis	false	Inferred relationship	Existential restriction modifier
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Galactocerebroside beta-galactosidase deficiency - early onset	Is a	Galactosylceramide beta-galactosidase deficiency	true	Inferred relationship	Existential restriction modifier
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	1
Galactocerebroside beta-galactosidase deficiency - early onset	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	2
Galactocerebroside beta-galactosidase deficiency - early onset	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier	1
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	2
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier	1
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Globoid cell leukodystrophy, early onset	Due to	True	Galactocerebroside beta-galactosidase deficiency - early onset	Inferred relationship	Existential restriction modifier	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356773010	Galactocerebroside beta-galactosidase deficiency - early onset	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
356774016	Infantile Krabbe disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
356775015	Globoid cell leucodystrophy, early onset	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
356776019	Globoid cell leukodystrophy, early onset	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
626852011	Galactocerebroside beta-galactosidase deficiency - early onset (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module